This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics.

The MT-ND1 m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis.

In Sherpa people, 2 mutations are ND1 mutants. One of them was reported as the primary mutation for Leber's hereditary optic neuropathy suggesting a certain effect on Complex I function and might be important in the altitude adaptation for Sherpa people.

Protein Überblick

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).